Links from Gene
Items: 1 to 20 of 3217
1.
rs1491494314 has merged into rs60658762 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAAAAAA>-,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 1:232312396
(GRCh38)
1:232448142
(GRCh37)
- Canonical SPDI:
- NC_000001.11:232312384:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000001.11:232312384:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000001.11:232312384:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000001.11:232312384:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000001.11:232312384:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000001.11:232312384:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000001.11:232312384:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000001.11:232312384:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000001.11:232312384:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000001.11:232312384:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:232312384:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:232312384:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:232312384:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:232312384:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:232312384:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:232312384:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:232312384:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:232312384:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:232312384:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:232312384:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:232312384:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:232312384:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:232312384:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:232312384:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:232312384:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:232312384:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:232312384:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:232312384:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:232312384:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:232312384:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
- Gene:
- LOC101929902 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAAAAAAA=0./0
(
ALFA)
- HGVS:
NC_000001.11:g.232312396_232312404del, NC_000001.11:g.232312398_232312404del, NC_000001.11:g.232312399_232312404del, NC_000001.11:g.232312400_232312404del, NC_000001.11:g.232312401_232312404del, NC_000001.11:g.232312402_232312404del, NC_000001.11:g.232312403_232312404del, NC_000001.11:g.232312404del, NC_000001.11:g.232312404dup, NC_000001.11:g.232312403_232312404dup, NC_000001.11:g.232312402_232312404dup, NC_000001.11:g.232312401_232312404dup, NC_000001.11:g.232312400_232312404dup, NC_000001.11:g.232312399_232312404dup, NC_000001.11:g.232312398_232312404dup, NC_000001.11:g.232312397_232312404dup, NC_000001.11:g.232312396_232312404dup, NC_000001.11:g.232312395_232312404dup, NC_000001.11:g.232312394_232312404dup, NC_000001.11:g.232312393_232312404dup, NC_000001.11:g.232312392_232312404dup, NC_000001.11:g.232312391_232312404dup, NC_000001.11:g.232312390_232312404dup, NC_000001.11:g.232312389_232312404dup, NC_000001.11:g.232312388_232312404dup, NC_000001.11:g.232312387_232312404dup, NC_000001.11:g.232312386_232312404dup, NC_000001.11:g.232312385_232312404dup, NC_000001.11:g.232312404_232312405insAAAAAAAAAAAAAAAAAAAAAA, NC_000001.11:g.232312404_232312405insAAAAAAAAAAAAAAAAAAAAAAA, NC_000001.10:g.232448142_232448150del, NC_000001.10:g.232448144_232448150del, NC_000001.10:g.232448145_232448150del, NC_000001.10:g.232448146_232448150del, NC_000001.10:g.232448147_232448150del, NC_000001.10:g.232448148_232448150del, NC_000001.10:g.232448149_232448150del, NC_000001.10:g.232448150del, NC_000001.10:g.232448150dup, NC_000001.10:g.232448149_232448150dup, NC_000001.10:g.232448148_232448150dup, NC_000001.10:g.232448147_232448150dup, NC_000001.10:g.232448146_232448150dup, NC_000001.10:g.232448145_232448150dup, NC_000001.10:g.232448144_232448150dup, NC_000001.10:g.232448143_232448150dup, NC_000001.10:g.232448142_232448150dup, NC_000001.10:g.232448141_232448150dup, NC_000001.10:g.232448140_232448150dup, NC_000001.10:g.232448139_232448150dup, NC_000001.10:g.232448138_232448150dup, NC_000001.10:g.232448137_232448150dup, NC_000001.10:g.232448136_232448150dup, NC_000001.10:g.232448135_232448150dup, NC_000001.10:g.232448134_232448150dup, NC_000001.10:g.232448133_232448150dup, NC_000001.10:g.232448132_232448150dup, NC_000001.10:g.232448131_232448150dup, NC_000001.10:g.232448150_232448151insAAAAAAAAAAAAAAAAAAAAAA, NC_000001.10:g.232448150_232448151insAAAAAAAAAAAAAAAAAAAAAAA
5.
rs1491181334 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- GA>-
[Show Flanks]
- Chromosome:
- 1:232315903
(GRCh38)
1:232451649
(GRCh37)
- Canonical SPDI:
- NC_000001.11:232315901:AGA:A
- Gene:
- LOC101929902 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
-=0.000004/1
(TOPMED)
- HGVS:
6.
rs1491029915 has merged into rs34851868 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ACAC>-,AC,ACACAC,ACACACAC,ACACACACAC,ACACACACACAC,ACACACACACACAC
[Show Flanks]
- Chromosome:
- 1:232315463
(GRCh38)
1:232451209
(GRCh37)
- Canonical SPDI:
- NC_000001.11:232315447:CACACACACACACACACAC:CACACACACACACAC,NC_000001.11:232315447:CACACACACACACACACAC:CACACACACACACACAC,NC_000001.11:232315447:CACACACACACACACACAC:CACACACACACACACACACAC,NC_000001.11:232315447:CACACACACACACACACAC:CACACACACACACACACACACAC,NC_000001.11:232315447:CACACACACACACACACAC:CACACACACACACACACACACACAC,NC_000001.11:232315447:CACACACACACACACACAC:CACACACACACACACACACACACACAC,NC_000001.11:232315447:CACACACACACACACACAC:CACACACACACACACACACACACACACAC
- Gene:
- LOC101929902 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
CACACACACACACACAC=0./0
(
ALFA)
CA=0.3085/1545
(1000Genomes)
- HGVS:
NC_000001.11:g.232315449AC[7], NC_000001.11:g.232315449AC[8], NC_000001.11:g.232315449AC[10], NC_000001.11:g.232315449AC[11], NC_000001.11:g.232315449AC[12], NC_000001.11:g.232315449AC[13], NC_000001.11:g.232315449AC[14], NC_000001.10:g.232451195AC[7], NC_000001.10:g.232451195AC[8], NC_000001.10:g.232451195AC[10], NC_000001.10:g.232451195AC[11], NC_000001.10:g.232451195AC[12], NC_000001.10:g.232451195AC[13], NC_000001.10:g.232451195AC[14]
7.
rs1491006226 has merged into rs1191356095 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- CACACACACACACA>-,CA,CACA,CACACA,CACACACA,CACACACACA,CACACACACACA,CACACACACACACACA,CACACACACACACACACA,CACACACACACACACACACA,CACACACACACACACACACACA,CACACACACACACACACACACACA,CACACACACACACACACACACACACA,CACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACACACACACACA
[Show Flanks]
- Chromosome:
- 1:232312222
(GRCh38)
1:232447968
(GRCh37)
- Canonical SPDI:
- NC_000001.11:232312205:CACACACACACACACACACACACACACACA:CACACACACACACACA,NC_000001.11:232312205:CACACACACACACACACACACACACACACA:CACACACACACACACACA,NC_000001.11:232312205:CACACACACACACACACACACACACACACA:CACACACACACACACACACA,NC_000001.11:232312205:CACACACACACACACACACACACACACACA:CACACACACACACACACACACA,NC_000001.11:232312205:CACACACACACACACACACACACACACACA:CACACACACACACACACACACACA,NC_000001.11:232312205:CACACACACACACACACACACACACACACA:CACACACACACACACACACACACACA,NC_000001.11:232312205:CACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACA,NC_000001.11:232312205:CACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACA,NC_000001.11:232312205:CACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACA,NC_000001.11:232312205:CACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACACA,NC_000001.11:232312205:CACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACACACA,NC_000001.11:232312205:CACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACACACACA,NC_000001.11:232312205:CACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACACACACACA,NC_000001.11:232312205:CACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACACACACACACA,NC_000001.11:232312205:CACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACACACACACACACA,NC_000001.11:232312205:CACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACACACACACACACACA,NC_000001.11:232312205:CACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACACACACACACACACACA,NC_000001.11:232312205:CACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACACACACACACACACACACA,NC_000001.11:232312205:CACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACACACACACACACACACACACA,NC_000001.11:232312205:CACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACACACACACACACACACACACACA,NC_000001.11:232312205:CACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACACACACACACACACACACACACACA,NC_000001.11:232312205:CACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACACACACACACACACACACACACACACA
- Gene:
- LOC101929902 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
CACACACACACACACACA=0./0
(
ALFA)
CA=0.2474/1239
(1000Genomes)
- HGVS:
NC_000001.11:g.232312206CA[8], NC_000001.11:g.232312206CA[9], NC_000001.11:g.232312206CA[10], NC_000001.11:g.232312206CA[11], NC_000001.11:g.232312206CA[12], NC_000001.11:g.232312206CA[13], NC_000001.11:g.232312206CA[14], NC_000001.11:g.232312206CA[16], NC_000001.11:g.232312206CA[17], NC_000001.11:g.232312206CA[18], NC_000001.11:g.232312206CA[19], NC_000001.11:g.232312206CA[20], NC_000001.11:g.232312206CA[21], NC_000001.11:g.232312206CA[22], NC_000001.11:g.232312206CA[23], NC_000001.11:g.232312206CA[24], NC_000001.11:g.232312206CA[25], NC_000001.11:g.232312206CA[26], NC_000001.11:g.232312206CA[27], NC_000001.11:g.232312206CA[28], NC_000001.11:g.232312206CA[29], NC_000001.11:g.232312206CA[30], NC_000001.10:g.232447952CA[8], NC_000001.10:g.232447952CA[9], NC_000001.10:g.232447952CA[10], NC_000001.10:g.232447952CA[11], NC_000001.10:g.232447952CA[12], NC_000001.10:g.232447952CA[13], NC_000001.10:g.232447952CA[14], NC_000001.10:g.232447952CA[16], NC_000001.10:g.232447952CA[17], NC_000001.10:g.232447952CA[18], NC_000001.10:g.232447952CA[19], NC_000001.10:g.232447952CA[20], NC_000001.10:g.232447952CA[21], NC_000001.10:g.232447952CA[22], NC_000001.10:g.232447952CA[23], NC_000001.10:g.232447952CA[24], NC_000001.10:g.232447952CA[25], NC_000001.10:g.232447952CA[26], NC_000001.10:g.232447952CA[27], NC_000001.10:g.232447952CA[28], NC_000001.10:g.232447952CA[29], NC_000001.10:g.232447952CA[30]
8.
rs1490377423 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 1:232313601
(GRCh38)
1:232449347
(GRCh37)
- Canonical SPDI:
- NC_000001.11:232313600:T:C
- Gene:
- LOC101929902 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000011/3
(TOPMED)
- HGVS:
9.
rs1490101971 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 1:232315354
(GRCh38)
1:232451100
(GRCh37)
- Canonical SPDI:
- NC_000001.11:232315353:C:T
- Gene:
- LOC101929902 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000011/3
(TOPMED)
- HGVS:
10.
rs1489763410 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 1:232307232
(GRCh38)
1:232442978
(GRCh37)
- Canonical SPDI:
- NC_000001.11:232307231:A:G
- Gene:
- LOC101929902 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.00046/8
(TOMMO)
- HGVS:
12.
rs1488408223 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 1:232312690
(GRCh38)
1:232448436
(GRCh37)
- Canonical SPDI:
- NC_000001.11:232312689:C:T
- Gene:
- LOC101929902 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000014/2
(GnomAD)
- HGVS:
13.
rs1488303219 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- T>-
[Show Flanks]
- Chromosome:
- 1:232305972
(GRCh38)
1:232441718
(GRCh37)
- Canonical SPDI:
- NC_000001.11:232305971:T:
- Gene:
- LOC101929902 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
-=0./0
(
ALFA)
-=0.000004/1
(TOPMED)
- HGVS:
14.
rs1488273159 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- GGGTCAACATACACCA>-
[Show Flanks]
- Chromosome:
- 1:232306918
(GRCh38)
1:232442664
(GRCh37)
- Canonical SPDI:
- NC_000001.11:232306914:CCAGGGTCAACATACACCA:CCA
- Gene:
- LOC101929902 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
CCA=0./0
(
ALFA)
-=0.000008/2
(TOPMED)
-=0.000014/2
(GnomAD)
-=0.000156/1
(1000Genomes)
- HGVS:
15.
rs1488123747 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 1:232303166
(GRCh38)
1:232438912
(GRCh37)
- Canonical SPDI:
- NC_000001.11:232303165:T:C
- Gene:
- LOC101929902 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
C=0.000007/1
(GnomAD)
- HGVS:
16.
rs1487810826 [Homo sapiens]- Variant type:
- INS
- Alleles:
- ->TT
[Show Flanks]
- Chromosome:
- 1:232313726
(GRCh38)
1:232449473
(GRCh37)
- Canonical SPDI:
- NC_000001.11:232313726::TT
- Gene:
- LOC101929902 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency
- MAF:
TT=0.00005/7
(GnomAD)
- HGVS:
17.
rs1487603272 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C
[Show Flanks]
- Chromosome:
- 1:232302941
(GRCh38)
1:232438687
(GRCh37)
- Canonical SPDI:
- NC_000001.11:232302940:G:C
- Gene:
- LOC101929902 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000015/4
(TOPMED)
C=0.000021/3
(GnomAD)
- HGVS:
18.
rs1487577875 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,C
[Show Flanks]
- Chromosome:
- 1:232309812
(GRCh38)
1:232445558
(GRCh37)
- Canonical SPDI:
- NC_000001.11:232309811:G:A,NC_000001.11:232309811:G:C
- Gene:
- LOC101929902 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
C=0.000007/1
(GnomAD)
A=0.000106/2
(TOMMO)
- HGVS:
19.
rs1487424559 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>T
[Show Flanks]
- Chromosome:
- 1:232311796
(GRCh38)
1:232447542
(GRCh37)
- Canonical SPDI:
- NC_000001.11:232311795:A:T
- Gene:
- LOC101929902 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000011/3
(TOPMED)
T=0.000021/3
(GnomAD)
- HGVS:
20.
rs1486440872 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>T
[Show Flanks]
- Chromosome:
- 1:232310581
(GRCh38)
1:232446327
(GRCh37)
- Canonical SPDI:
- NC_000001.11:232310580:A:T
- Gene:
- LOC101929902 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000011/3
(TOPMED)
- HGVS: